Results 31 to 40 of about 2,693,074 (200)
Pulmonary hypertension in late-onset Methylmalonic Aciduria and Homocystinemia: a case report
BMC Pediatrics, 2020 Background Methylmalonic Aciduria and Homocystinemia, cobalamin C (cblC) is an inherited disease of vitamin B12 metabolism with a wide spectrum of clinical manifestations.
Ling-yi Wen, Ying-kun Guo, Xiao-qing Shi
doaj +1 more source
Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia
Cell Reports, 2017 Summary: Isolated methylmalonic acidemia/aciduria (MMA) is a devastating metabolic disorder with poor outcomes despite current medical treatments. Like other mitochondrial enzymopathies, enzyme replacement therapy (ERT) is not available, and although ...
Ding An +23 more
doaj +1 more source
Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway
International Journal of Neonatal Screening, 2023 Untreated vitamin B12 (B12) deficiency may cause delayed development in infants. Several newborn screening (NBS) programs have reported an increased detection rate of B12 deficiency when second-tier dried blood spot (DBS) analyses of total homocysteine ...
Trine Tangeraas +8 more
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Effect of vitamin B12 derivatives on urinary excretion of methylmalonic acid in liver diseases [PDF]
, 1970 1. Twenty.one patients with liver diseases were studied for their urinary mehylmalonic acid excretion after a valine load by means of an improved thin layer chromatography. 2.
Ueda, Masatoshi, Taketa, Kazuhisa
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Biomarkers for drug development in propionic and methylmalonic acidemias [PDF]
, 2022 There is an unmet need for the development and validation of biomarkers and surrogate endpoints for clinical trials in propionic acidemia (PA) and methylmalonic acidemia (MMA).
Agnieszka Jurecka +7 more
core +1 more source
Algorithm for the early diagnosis of vitamin B12 deficiency in elderly people
Nutrición Hospitalaria, 2013 Background: The elderly population is particularly at risk for developing vitamin B12-deficiency. Serum cobalamin does not necessarily reflect a normal B12 status. The determination of methylmalonic acid is not available in all laboratories.
Gonzalo Palacios +5 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2021 Background Methylmalonic acidemia is an inherited organic acid metabolic disease. It involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, and one of them, c.1663G > A (p.
Lili Liang +23 more
doaj +1 more source
, 2022 BackgroundThe cblC type methylmalonic acidemia is the most common methylmalonic acidemia (MMA) in China. The biochemical characteristics of this disease include elevated methylmalonic acid and homocysteine (HCY), increased propionylcarnitine (C3 ...
Shuqi Sun (2830394) +4 more
core +1 more source
Advanced Science, EarlyView.Oligosaccharides with defined glycosidic bonds drive divergent gut microbial succession and shape unique metabolic profiles. Absolute time‐series profiling with Bayesian generalized Lotka–Volterra modeling identifies bond‐specific microbial responders, while monoculture validation and metaproteomics reveal linkage‐matched transport and cleavage modules.
Xiaoxuan Lu +10 more
wiley +1 more source
A Coumarin-Based Fluorescent Probe as a Central Nervous System Disease Biomarker
Sensors, 2014 Homocysteine and methylmalonic acid are important biomarkers for diseases associated with an impaired central nervous system (CNS). A new chemoassay utilizing coumarin-based fluorescent probe 1 to detect the levels of homocysteine is successfully ...
Ann-Chee Yap +4 more
doaj +1 more source